Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587782326
rs587782326
2 2 47806628 frameshift variant -/A delins 0.700 1.000 6 2003 2015
dbSNP: rs886044911
rs886044911
2 1.000 0.160 2 47806614 frameshift variant -/A delins 0.700 1.000 3 2003 2014
dbSNP: rs267608118
rs267608118
3 1.000 0.160 2 47806453 frameshift variant -/A delins 0.700 1.000 2 2010 2016
dbSNP: rs587780670
rs587780670
3 1.000 0.160 2 47799772 frameshift variant -/A delins 0.700 1.000 1 2015 2015
dbSNP: rs1553333310
rs1553333310
1 2 47806462 frameshift variant -/A delins 0.700 0
dbSNP: rs1553333321
rs1553333321
1 2 47806464 frameshift variant -/A delins 0.700 0
dbSNP: rs1553333530
rs1553333530
1 2 47806542 stop gained -/A delins 0.700 0
dbSNP: rs1553412966
rs1553412966
2 1.000 0.160 2 47799553 stop gained -/A delins 0.700 0
dbSNP: rs1553413074
rs1553413074
1 2 47799680 frameshift variant -/A delins 0.700 0
dbSNP: rs1553413640
rs1553413640
1 2 47800242 frameshift variant -/A delins 0.700 0
dbSNP: rs1558387361
rs1558387361
1 2 47803520 frameshift variant -/A delins 0.700 0
dbSNP: rs587782111
rs587782111
3 1.000 0.160 2 47804946 stop gained -/A delins 0.700 0
dbSNP: rs878853739
rs878853739
1 2 47806511 frameshift variant -/A delins 0.700 0
dbSNP: rs63751327
rs63751327
4 0.925 0.160 2 47804984 frameshift variant -/A;AA delins 0.700 1.000 7 1999 2014
dbSNP: rs1060502946
rs1060502946
1 2 47799278 frameshift variant -/AA ins 0.700 0
dbSNP: rs878853736
rs878853736
1 2 47806271 stop gained -/AAAAT delins 0.700 0
dbSNP: rs752404604
rs752404604
3 1.000 0.160 2 47806216 frameshift variant -/AACA delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1060502903
rs1060502903
1 2 47806476 frameshift variant -/AAGA delins 0.700 0
dbSNP: rs1553333432
rs1553333432
1 2 47806498 frameshift variant -/ACGTTCCT delins 0.700 0
dbSNP: rs1553413732
rs1553413732
1 2 47800353 frameshift variant -/AGAC delins 0.700 0
dbSNP: rs786203331
rs786203331
2 2 47805621 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs1553333738
rs1553333738
3 1.000 0.160 2 47806628 frameshift variant -/ATCA delins 0.700 0
dbSNP: rs587779295
rs587779295
2 1.000 0.160 2 47806568 frameshift variant -/ATCTCCCA delins 0.700 1.000 1 2011 2011
dbSNP: rs587782562
rs587782562
3 1.000 0.160 2 47803577 stop gained -/ATGA delins 7.0E-06 0.700 1.000 4 2009 2015
dbSNP: rs267608128
rs267608128
4 0.925 0.160 2 47806496 frameshift variant -/ATTA delins 0.700 1.000 1 2012 2012